Advances in laboratory medicine最新文献_第9页

Implementation of circulating cell-free DNA screening for fetal aneuploidies. 胎儿非整倍体循环无细胞DNA筛查的实施。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-25 eCollection Date: 2025-06-01 DOI: 10.1515/almed-2025-0055

Irene Madrigal Bajo, Meritxell Jodar Bifet, Celia Badenas Orquin

{"title":"Implementation of circulating cell-free DNA screening for fetal aneuploidies.","authors":"Irene Madrigal Bajo, Meritxell Jodar Bifet, Celia Badenas Orquin","doi":"10.1515/almed-2025-0055","DOIUrl":"10.1515/almed-2025-0055","url":null,"abstract":"Introduction: Circulating cell-free DNA (cfDNA) consists of extracellular DNA fragments that circulate in the bloodstream and derived from apoptotic cells such as hematopoietic cells or placental trophoblast cells during pregnancy.Contents: cfDNA screening has been included in prenatal screening programs for the detection of chromosomal abnormalities. Unlike other invasive techniques, such as amniocentesis or chorionic villus sampling, cfDNA screening only requires a maternal plasma test. The use of advanced technologies for cfDNA testing, including DNA sequencing and SNP arrays, enables the detection of pregnancies at risk for trisomy 21, 18 or 13.Summary: This test has demonstrated a high accuracy and reliability, with detection rates exceeding 99 % for trisomy 21, and a very low rate of false-positive and false-negative results. In some countries, cfDNA screening has already been integrated in combined or universal prenatal screening programs.Outlook: As new technologies emerge and become widely available, more accurate prenatal tests will be developed for other genetic abnormalities.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 2","pages":"135-143"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Adjusting natriuretic peptide decision limits for BMI for a more personalized diagnosis of heart failure. 调整利钠肽对BMI的判断限制，使心力衰竭的诊断更加个性化。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-24 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0020

Damien Gruson, Sergio Bernardini, Marco Perrone

引用次数: 0

How to handle lipemic CBC samples on Sysmex hematology analyzers? 如何在Sysmex血液学分析仪上处理血脂性CBC样本？

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-20 eCollection Date: 2025-06-01 DOI: 10.1515/almed-2024-0206

Vanja Radišić Biljak, Lucija Dolovčak, Iva Bakarić, Ana Nikler, Andrea Saračević, Marija Grdić Rajković

{"title":"How to handle lipemic CBC samples on Sysmex hematology analyzers?","authors":"Vanja Radišić Biljak, Lucija Dolovčak, Iva Bakarić, Ana Nikler, Andrea Saračević, Marija Grdić Rajković","doi":"10.1515/almed-2024-0206","DOIUrl":"10.1515/almed-2024-0206","url":null,"abstract":"Objectives: Lipemia poses a significant preanalytical problem for complete blood count (CBC) measurement due to limited and non-standardized methods for recognition and removal. We aimed to verify the optical hemoglobin (Hb-O) measurements on the Sysmex XN-1000 hematology analyzer (HA) as a possible reliable method for managing lipemic CBC samples.Methods: Ninety CBC samples with varying Hb concentrations were gradually spiked with a lipid emulsion. Measurements were repeated and Hb-O concentrations were recorded. Spiked CBC samples were centrifuged (400 g/10 min). Plasma was carefully removed, and Hb concentration was measured. The values obtained from the lipemic samples were adjusted according to the measurements in the plasma. The removed plasma was substituted with the analyzer's diluent, and measurements were repeated. Triglyceride concentrations were measured in lipemic plasma samples.Results: Hb-O showed statistically insignificant and acceptable bias compared to the initial Hb measurement according to the strictest acceptability criteria (-0.4 %, 95 % CI: -1.2-0.3, p=0.2447). The observed bias did not correlate with the degree of lipemia (rho=-0.072, 95 % CI: -0.295 to 0.157, p=0.537). Hemoglobin measured in samples with lipemic plasma replaced by analyzer diluent exhibited minimal, albeit statistically significant, bias (-1.1 %, 95 % CI: -2.0 to (-0.1), p=0.025). The observed bias negatively correlated with the degree of lipemia (rho=-0.369, 95 % CI: -0.550 to (-0.155), p=0.001). The highest unacceptable bias was found in the recalculated hemoglobin values based on the measured plasma hemoglobin (-3.5 %, 95 % CI: -4.1 to (-2.9), p<0.0001).Conclusions: Hb-O measurement is the most reliable measure of lipemia removal in CBC samples on the Sysmex XN-1000 HA.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 2","pages":"166-172"},"PeriodicalIF":1.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients. 评估七个生物信息学平台，用于对一组试点患者的全外显子组测序的基因组数据进行三级分析。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-10 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0031

Nerea Bastida-Lertxundi, Itxaso Martí-Carrera, Borja Laña-Ruíz, Otilia Martínez-Múgica Barbosa, Raquel Muguerza-Iraola, Raquel Sáez-Villaverde, Julien S Crettaz

{"title":"Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients.","authors":"Nerea Bastida-Lertxundi, Itxaso Martí-Carrera, Borja Laña-Ruíz, Otilia Martínez-Múgica Barbosa, Raquel Muguerza-Iraola, Raquel Sáez-Villaverde, Julien S Crettaz","doi":"10.1515/almed-2025-0031","DOIUrl":"10.1515/almed-2025-0031","url":null,"abstract":"Objectives: To evaluate seven bioinformatics platforms for automated AI-based genomic variant prioritization and classification.Methods: An evaluation was performed of 24 genetic variants that explained the phenotype of 20 patients. FASTQ files were simultaneously uploaded on the following bioinformatics platforms: Emedgene, eVai, Varsome Clinical, CentoCloud, QIAGEN Clinical Insight (QCI) Interpret, SeqOne and Franklin. Automated variant prioritization and classification was performed using patient phenotypes. Phenotypes were entered onto the different platforms using HPO terms. The classification of reference was established based on the criteria of the American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology and ACMG/ClinGen guidelines.Results: SeqOne demonstrated the highest performance in variant prioritization and ranked 19 of 24 variants in the Top 1; four in the Top 5, and one in the Top 15, followed by CentoCloud and Franklin. QCI Interpret did not prioritize six variants and failed to detect one. Emedgene did not prioritize one and failed to detect one. Finally, Varsome Clinical did not prioritize four variants. Franklin classified correctly 75 % of variants, followed by Varsome Clinical (67 %) and QCI Interpret (63 %).Conclusions: SeqOne, CentoCloud, and Franklin had the highest performance in automated variant prioritization, as they prioritized all variants. In relation to automated classification, Franklin showed a higher concordance with the reference and a lower number of discordances with clinical implications. In conclusion, Franklin emerges as the platform with the best overall performance. Anyway, further studies are needed to confirm these results.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 1","pages":"28-36"},"PeriodicalIF":1.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parameters of glycemic variability in continuous glucose monitoring as predictors of diabetes: a prospective evaluation in a non-diabetic general population. 连续血糖监测中的血糖变异性参数作为糖尿病的预测指标：对非糖尿病人群的前瞻性评估。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-07 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0011

Javier Rodríguez García, Felix Camiña Darriba, Juan B Ortolá Devesa, Santiago Rodríguez-Segade Villamarín, Andrea Valle Rodríguez

{"title":"Parameters of glycemic variability in continuous glucose monitoring as predictors of diabetes: a prospective evaluation in a non-diabetic general population.","authors":"Javier Rodríguez García, Felix Camiña Darriba, Juan B Ortolá Devesa, Santiago Rodríguez-Segade Villamarín, Andrea Valle Rodríguez","doi":"10.1515/almed-2025-0011","DOIUrl":"10.1515/almed-2025-0011","url":null,"abstract":"Objectives: To prospectively examine the ability of some glycemic variability metrics from continuous glucose monitoring (CGM) to predict the development of diabetes in a non-diabetic population.Methods: A total of 497 non-diabetic patients from the AEGIS study were included. Participants used a CGM system (iPro2®) over a six-day period. The following parameters were analyzed: standard deviation (SD), coefficient of variation (CV) and mean amplitude of glucose excursion (MAGE). Six-years follow-up was performed. ROC curves were constructed to determine the predictive value of glycemic variability metrics. Sensitivity and specificity were calculated.Results: Of the 497 participants, 16 women (4.9 %) and 9 men (5.2 %) developed diabetes. Initial HbA1c and fasting glucose levels were significantly higher in the participants who ultimately developed diabetes. Glycemic variability metrics were also significantly higher in these subjects (SD: 18 vs. 13 mg/dL; CV: 17 vs. 14 %; MAGE: 36 vs. 27 mg/dL; p<0.001 in all cases). SD showed the highest AUC (0.81), with a sensitivity of 80 % and a specificity of 72 % for a cut-off of 14.9 mg/dL. AUCs were higher in men for all metrics.Conclusions: The metrics obtained by MCG, especially SD, are effective predictors of progression to type 2 diabetes in a non-diabetic population. These findings suggest that glycemic variability is useful for the early identification of subjects at a higher risk of developing diabetes.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 1","pages":"46-51"},"PeriodicalIF":1.1,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Luces y sombras de la inteligencia artificial en la medicina de laboratorio. 人工智能在实验室医学中的光与影。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-03 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0039

Giuseppe Lippi, Mario Plebani

引用次数: 0

Fundamentals of lipoprotein(a) request and quantification in the clinical laboratory. 脂蛋白的基本原理(a)在临床实验室的要求和定量。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-03 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0034

Teresa Arrobas Velilla, Carla Fernández Prendes, Núria Amigó Grau, Pilar Calmarza, Silvia Camós Anguila, Beatriz Candas Estébanez, María José Castro Castro, David Ceacero, Irene González Martínez, María Martín Palencia, José Puzo Foncillas, Carlos Romero Román

{"title":"Fundamentals of lipoprotein(a) request and quantification in the clinical laboratory.","authors":"Teresa Arrobas Velilla, Carla Fernández Prendes, Núria Amigó Grau, Pilar Calmarza, Silvia Camós Anguila, Beatriz Candas Estébanez, María José Castro Castro, David Ceacero, Irene González Martínez, María Martín Palencia, José Puzo Foncillas, Carlos Romero Román","doi":"10.1515/almed-2025-0034","DOIUrl":"10.1515/almed-2025-0034","url":null,"abstract":"Cardiovascular diseases keep being the leading cause of mortality in Spain. Efforts should be intensified to identify new risk factors that may contribute to increasing cardiovascular risk. Lipoprotein(a) (Lp(a)) has been associated with a higher risk for developing aortic valve stenosis, heart failure, ischemic stroke, ischemic heart disease and peripheral arterial disease. Hyperlipoproteinemia(a) is a common health problem. Between 10 and 30 % of the world population have Lp(a) values exceeding 50 mg/dL. The scientific evidence provided in the recent years confirms an independent association between Lp(a) and the risk for having an arteriosclerotic cardiovascular event. This finding, added to the emergence of new specific therapies for reducing Lp(a) has raised interest in the quantification of this lipoprotein. The objective of this paper was to perform a review of the evidence available to identify the patients who will benefit from undergoing Lp(a) testing and determine the recommended quantification methods, the desirable concentrations, and the role of Lp(a) determination in reclassifying the cardiovascular risk of patients.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 1","pages":"7-16"},"PeriodicalIF":1.1,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Aspectos fundamentales en la solicitud y determinación de la lipoproteína(a) en el laboratorio clínico. 在临床实验室中应用和测定脂蛋白(a)的基本方面。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-03 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2024-0090

Teresa Arrobas Velilla, Carla Fernández Prendes, Núria Amigó Grau, Pilar Calmarza, Silvia Camós Anguila, Beatriz Candas Estébanez, María José Castro Castro, David Ceacero, Irene González Martínez, María Martín Palencia, José Puzo Foncillas, Carlos Romero Román

引用次数: 0

Implementación del ADN libre circulante para la detección de aneuploidías fetales. 利用自由循环DNA检测胎儿非整倍体。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-28 eCollection Date: 2025-06-01 DOI: 10.1515/almed-2024-0110

Irene Madrigal Bajo, Meritxell Jodar Bifet, Celia Badenas Orquin

引用次数: 0

Lights and shadows of artificial intelligence in laboratory medicine. 实验室医学中人工智能的光影。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-24 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0024

Giuseppe Lippi, Mario Plebani

引用次数: 0